Linked Data
ClinVar Variation Id:
2890391
ClinVar RCV Id:
RCV003720473
dbSNP Id:
rs559282765
ExAC:
3:14190296 T / A
gnomAD v2:
3-14190296-T-A
gnomAD v3:
3-14148796-T-A
gnomAD v4:
3-14148796-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148796T>A , CM000665.2:g.14148796T>A | GRCh38 |
| NC_000003.11:g.14190296T>A , CM000665.1:g.14190296T>A | GRCh37 |
| NC_000003.10:g.14165297T>A | NCBI36 |
| NG_011763.1:g.34877A>T , LRG_472:g.34877A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2250+18A>T MANE Select | ENSP00000285021.8:n.2250+18A>T | |
| ENST00000285021.11:c.2250+18A>T | ENSP00000285021.7:n.2250+18A>T | |
| ENST00000427795.2:n.115+18A>T | ||
| ENST00000476581.6:c.*1703+18A>T | ENSP00000424548.1:n.*1703+18A>T | |
| NM_004628.4:c.2250+18A>T , LRG_472t1:c.2250+18A>T | NP_004619.3:n.2250+18A>T | |
| NR_027299.1:n.2230+18A>T | ||
| XM_011534092.1:c.2250+18A>T | XP_011532394.1:n.2250+18A>T | |
| NM_001354726.1:c.1671+18A>T | NP_001341655.1:n.1671+18A>T | |
| NM_001354727.1:c.2244+18A>T | NP_001341656.1:n.2244+18A>T | |
| NM_001354729.1:c.2232+18A>T | NP_001341658.1:n.2232+18A>T | |
| NM_001354730.1:c.2004+18A>T | NP_001341659.1:n.2004+18A>T | |
| NR_148950.1:n.2193+18A>T | ||
| NR_148951.1:n.2069+18A>T | ||
| XR_001740256.2:n.2283+18A>T | ||
| XR_002959580.1:n.2283+18A>T | ||
| XR_002959581.1:n.3900+18A>T | ||
| NM_001354727.2:c.2244+18A>T | NP_001341656.1:n.2244+18A>T | |
| NM_004628.5:c.2250+18A>T MANE Select | NP_004619.3:n.2250+18A>T | |
| NR_148950.2:n.2122+18A>T | ||
| NR_148951.2:n.1998+18A>T | ||
| NM_001354726.2:c.1671+18A>T | NP_001341655.1:n.1671+18A>T | |
| NM_001354729.2:c.2232+18A>T | NP_001341658.1:n.2232+18A>T | |
| NM_001354730.2:c.2004+18A>T | NP_001341659.1:n.2004+18A>T |